PNPLA1 Genotype Frequencies in Italian Golden Retrievers 2017-2025

508 genetic tests from Golden Retrievers in Italy between 2017 and 2025 were analyzed for PNPLA1 and ABHD5 gene mutations. The data shows genotype frequencies, with 42% of PNPLA1-tested dogs being clear, 37% carriers, and 21% affected, revealing a temporal decline in mutant allele frequency. Maria Grazia De Iorio conducted this retrospective study, which includes 463 tests for PNPLA1 and 42 for ABHD5.

Use Cases

• Analyze temporal trends in PNPLA1 mutant allele frequency using year-of-birth data to assess selective breeding impact.
• Compare genotype frequencies (clear, carrier, affected) across different birth years to model disease prevalence changes.
• Investigate the rarity of the ABHD5 deletion variant against PNPLA1 mutation data from 42 specifically tested dogs.

Strengths

• 508 total genetic tests provide a substantive sample for a breed-specific genetic study.
• Data spans 8 years (2017-2025), enabling analysis of temporal trends in allele frequency.
• Genotype results are broken into clear percentages (42%), carrier (37%), and affected (21%) for the PNPLA1 variant.

Limitations

• The dataset is small at 5.5 KB, indicating limited scope and detail beyond core frequencies.
• Sample is geographically restricted to Golden Retrievers tested in Italy, limiting generalizability.
• Rows and specific column structure are unknown, restricting advanced analytical applications.

Provenance

Source

Maria Grazia De Iorio via figshare.

Collection Method

Retrospective analysis of genetic tests; DNA extracted from blood/buccal samples and analyzed by real-time PCR and Sanger sequencing.

Time Range

2017 to September 2025.

Freshness

Last updated March 2026, indicating recent data compilation.

Geography

Golden Retrievers tested in Italy.